Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study

Tuberous sclerosis complex (TSC) is a genetic condition characterized by the occurrence of hamartomatous wounds stemming from the dysfunction of the mammalian target of rapamycin (mTOR) pathway. We investigated the clinical phenotypes and genetic variants in 243 unrelated probands and their families...

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Detalhes bibliográficos

Principais autores:	Yifeng Ding, Ji Wang, Shuizhen Zhou, Yuanfeng Zhou, Linmei Zhang, Lifei Yu, Yi Wang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2020-03-01
coleção:	Frontiers in Genetics
Assuntos:	tuberous sclerosis complex genotype phenotype children Chinese
Acesso em linha:	https://www.frontiersin.org/article/10.3389/fgene.2020.00204/full
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